Thbs2 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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151 records found for search term Thbs2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405258025	CV3208091	single nucleotide variant	NM_003247.5(THBS2):c.*2C>T	THBS2-related disorder [RCV003941543]	likely benign	6	169217820	169217820	Human		name , trait , alternate_id
8563279	CV27752	single nucleotide variant	NM_003247.5(THBS2):c.1478-8C>T	Lumbar disk herniation, susceptibility to [RCV000013550]\|THBS2-related disorder [RCV003982839]	risk factor\|benign	6	169234915	169234915	Human	1	name , trait , alternate_id
405276066	CV3193260	single nucleotide variant	NM_003247.5(THBS2):c.2152-9C>T	THBS2-related disorder [RCV003974426]	benign	6	169229688	169229688	Human		name , trait , alternate_id
405285259	CV3202588	single nucleotide variant	NM_003247.5(THBS2):c.1129+9C>T	THBS2-related disorder [RCV003909843]	likely benign	6	169239590	169239590	Human		name , trait , alternate_id
408367395	CV3511816	single nucleotide variant	NM_003247.5(THBS2):c.1780-4G>A	THBS2-related disorder [RCV004758427]	benign	6	169232820	169232820	Human		name , trait , alternate_id
15104328	CV777604	single nucleotide variant	NM_003247.5(THBS2):c.694+10T>A	THBS2-related disorder [RCV003916004]\|not provided [RCV000959662]	benign	6	169246187	169246187	Human	1	name , trait , alternate_id
8581742	CV116187	single nucleotide variant	NM_003247.3(THBS2):c.695-1070G>T	Lung cancer [RCV000096710]	uncertain significance	6	169243028	169243028	Human		name
8631922	CV87128	single nucleotide variant	NM_003247.3(THBS2):c.243G>A (p.Lys81=)	Malignant melanoma [RCV000067219]	not provided	6	169248783	169248783	Human		name
405290461	CV3200893	single nucleotide variant	NM_003247.5(THBS2):c.354C>T (p.Asn118=)	THBS2-related disorder [RCV003984557]	benign	6	169248672	169248672	Human		name , trait , alternate_id
405274969	CV3204567	single nucleotide variant	NM_003247.5(THBS2):c.459C>T (p.Thr153=)	THBS2-related disorder [RCV003951983]	likely benign	6	169248567	169248567	Human		name , trait , alternate_id
405291967	CV3216975	single nucleotide variant	NM_003247.5(THBS2):c.777G>A (p.Ser259=)	THBS2-related disorder [RCV003964317]	benign	6	169241876	169241876	Human		name , trait , alternate_id
15166269	CV710339	single nucleotide variant	NM_003247.5(THBS2):c.519C>T (p.Phe173=)	not provided [RCV000971139]	benign	6	169248507	169248507	Human		name
8631921	CV87127	single nucleotide variant	NM_003247.3(THBS2):c.345C>T (p.Ile115=)	Malignant melanoma [RCV000067218]	not provided	6	169248681	169248681	Human		name
155998965	CV2296141	single nucleotide variant	NM_003247.5(THBS2):c.280G>T (p.Gly94Cys)	not specified [RCV004154069]	uncertain significance	6	169248746	169248746	Human		name
401921079	CV2828142	single nucleotide variant	NM_003247.5(THBS2):c.1068G>A (p.Pro356=)	not provided [RCV003432177]	likely benign	6	169239660	169239660	Human		name
405276279	CV3193322	single nucleotide variant	NM_003247.5(THBS2):c.1173C>T (p.Thr391=)	THBS2-related disorder [RCV003974489]	benign	6	169237752	169237752	Human		name , trait , alternate_id
405284275	CV3196696	single nucleotide variant	NM_003247.5(THBS2):c.1257C>G (p.Ser419=)	THBS2-related disorder [RCV003979595]	benign	6	169237668	169237668	Human		name , trait , alternate_id
405290922	CV3207683	single nucleotide variant	NM_003247.5(THBS2):c.2250C>G (p.Thr750=)	THBS2-related disorder [RCV003927243]	likely benign	6	169229581	169229581	Human		name , trait , alternate_id
405294241	CV3214742	single nucleotide variant	NM_003247.5(THBS2):c.2718C>T (p.Pro906=)	THBS2-related disorder [RCV003934168]	benign	6	169225200	169225200	Human		name , trait , alternate_id
405294858	CV3214911	single nucleotide variant	NM_003247.5(THBS2):c.2229C>T (p.Asp743=)	THBS2-related disorder [RCV003936775]	likely benign	6	169229602	169229602	Human		name , trait , alternate_id
405287611	CV3217817	single nucleotide variant	NM_003247.5(THBS2):c.2007C>T (p.Gly669=)	THBS2-related disorder [RCV003981940]	benign	6	169232124	169232124	Human		name , trait , alternate_id
405278805	CV3220464	single nucleotide variant	NM_003247.5(THBS2):c.1584C>T (p.Tyr528=)	THBS2-related disorder [RCV003976657]	benign	6	169234801	169234801	Human		name , trait , alternate_id
407497950	CV3478888	single nucleotide variant	NM_003247.5(THBS2):c.151G>A (p.Gly51Ser)	not specified [RCV004668533]	likely benign	6	169248875	169248875	Human		name
597762746	CV3616416	single nucleotide variant	NM_003247.5(THBS2):c.219G>C (p.Lys73Asn)	not specified [RCV004869699]	uncertain significance	6	169248807	169248807	Human		name
598184857	CV3913515	single nucleotide variant	NM_003247.5(THBS2):c.110G>A (p.Arg37His)	not specified [RCV005287340]	uncertain significance	6	169248916	169248916	Human		name
15104323	CV699455	single nucleotide variant	NM_003247.5(THBS2):c.2202C>T (p.Asp734=)	not provided [RCV000959661]	benign	6	169229629	169229629	Human		name
15197365	CV699456	single nucleotide variant	NM_003247.5(THBS2):c.1077C>A (p.Thr359=)	THBS2-related disorder [RCV003935863]\|not provided [RCV000956445]	benign	6	169239651	169239651	Human	1	name , trait , alternate_id
15158475	CV710336	single nucleotide variant	NM_003247.5(THBS2):c.2994C>T (p.Ile998=)	not provided [RCV000969519]	benign	6	169223255	169223255	Human		name
15138169	CV710338	single nucleotide variant	NM_003247.5(THBS2):c.1671C>G (p.Pro557=)	not provided [RCV000965743]	benign	6	169232998	169232998	Human		name
15118473	CV735532	single nucleotide variant	NM_003247.5(THBS2):c.2706C>T (p.Asn902=)	not provided [RCV000895554]	benign	6	169225212	169225212	Human		name
156383516	CV2220082	single nucleotide variant	NM_003247.5(THBS2):c.731T>G (p.Leu244Arg)	not specified [RCV004093955]	uncertain significance	6	169241922	169241922	Human		name
156291082	CV2226273	single nucleotide variant	NM_003247.5(THBS2):c.803G>T (p.Arg268Leu)	not specified [RCV004099516]	uncertain significance	6	169241850	169241850	Human		name
156076017	CV2251217	single nucleotide variant	NM_003247.5(THBS2):c.421G>A (p.Asp141Asn)	not specified [RCV004115442]	uncertain significance	6	169248605	169248605	Human		name
156210165	CV2309642	single nucleotide variant	NM_003247.5(THBS2):c.364G>C (p.Asp122His)	not specified [RCV004159006]	uncertain significance	6	169248662	169248662	Human		name
156270230	CV2326442	single nucleotide variant	NM_003247.5(THBS2):c.526G>T (p.Asp176Tyr)	not specified [RCV004183010]	uncertain significance	6	169248500	169248500	Human		name
156281873	CV2338495	single nucleotide variant	NM_003247.5(THBS2):c.672G>C (p.Lys224Asn)	not specified [RCV004188534]	uncertain significance	6	169246219	169246219	Human		name
156009232	CV2361976	single nucleotide variant	NM_003247.5(THBS2):c.788C>T (p.Pro263Leu)	not specified [RCV004207742]	uncertain significance	6	169241865	169241865	Human		name
155997927	CV2396157	single nucleotide variant	NM_003247.5(THBS2):c.806C>T (p.Ser269Leu)	Ehlers-Danlos syndrome, classic-like, 3 [RCV005399242]\|not specified [RCV004240122]	uncertain significance	6	169241847	169241847	Human	1	name
155933582	CV2399350	single nucleotide variant	NM_003247.5(THBS2):c.734G>A (p.Arg245His)	not specified [RCV004242638]	likely benign	6	169241919	169241919	Human		name
329370964	CV2461899	single nucleotide variant	NM_003247.5(THBS2):c.888A>T (p.Arg296Ser)	not specified [RCV004271807]	uncertain significance	6	169241765	169241765	Human		name
401732550	CV2675117	single nucleotide variant	NM_003247.5(THBS2):c.707C>A (p.Ala236Asp)	not specified [RCV004289897]	uncertain significance	6	169241946	169241946	Human		name
401775594	CV2692429	single nucleotide variant	NM_003247.5(THBS2):c.342G>T (p.Glu114Asp)	not specified [RCV004312189]	uncertain significance	6	169248684	169248684	Human		name
401857471	CV2759253	single nucleotide variant	NM_003247.5(THBS2):c.625G>A (p.Val209Ile)	not specified [RCV004335850]	uncertain significance	6	169246266	169246266	Human		name
401908681	CV2828141	single nucleotide variant	NM_003247.5(THBS2):c.3243G>A (p.Ala1081=)	not provided [RCV003423480]	likely benign	6	169222227	169222227	Human		name
405284597	CV3196988	single nucleotide variant	NM_003247.5(THBS2):c.3075C>T (p.Ala1025=)	THBS2-related disorder [RCV003979829]	benign	6	169222395	169222395	Human		name , trait , alternate_id
405290858	CV3197147	single nucleotide variant	NM_003247.5(THBS2):c.3360T>C (p.Thr1120=)	THBS2-related disorder [RCV003984709]	benign	6	169221441	169221441	Human		name , trait , alternate_id
405283925	CV3200431	single nucleotide variant	NM_003247.5(THBS2):c.3183C>T (p.Ser1061=)	THBS2-related disorder [RCV003979463]	likely benign	6	169222287	169222287	Human		name , trait , alternate_id
405266981	CV3202154	single nucleotide variant	NM_003247.5(THBS2):c.893C>T (p.Ser298Leu)	THBS2-related disorder [RCV003911625]	benign	6	169240591	169240591	Human		name , trait , alternate_id
405291935	CV3207731	single nucleotide variant	NM_003247.5(THBS2):c.757G>A (p.Glu253Lys)	THBS2-related disorder [RCV003929423]	likely benign	6	169241896	169241896	Human		name , trait , alternate_id
405793229	CV3339227	single nucleotide variant	NM_003247.5(THBS2):c.418G>A (p.Glu140Lys)	not specified [RCV004474829]	uncertain significance	6	169248608	169248608	Human		name
405793235	CV3339229	single nucleotide variant	NM_003247.5(THBS2):c.423C>G (p.Asp141Glu)	not specified [RCV004474831]	uncertain significance	6	169248603	169248603	Human		name
405793238	CV3339230	single nucleotide variant	NM_003247.5(THBS2):c.640G>C (p.Glu214Gln)	not specified [RCV004474832]	uncertain significance	6	169246251	169246251	Human		name
405793241	CV3339231	single nucleotide variant	NM_003247.5(THBS2):c.790G>A (p.Glu264Lys)	not specified [RCV004474833]	uncertain significance	6	169241863	169241863	Human		name
405793244	CV3339232	single nucleotide variant	NM_003247.5(THBS2):c.889G>T (p.Val297Leu)	not specified [RCV004474834]	uncertain significance	6	169241764	169241764	Human		name
405793247	CV3339233	single nucleotide variant	NM_003247.5(THBS2):c.898G>A (p.Asp300Asn)	not specified [RCV004474835]	uncertain significance	6	169240586	169240586	Human		name
405793250	CV3339234	single nucleotide variant	NM_003247.5(THBS2):c.950T>C (p.Met317Thr)	not specified [RCV004474836]	uncertain significance	6	169240534	169240534	Human		name
407520083	CV3478885	single nucleotide variant	NM_003247.5(THBS2):c.521C>A (p.Ala174Asp)	not specified [RCV004676834]	uncertain significance	6	169248505	169248505	Human		name
407497945	CV3478887	single nucleotide variant	NM_003247.5(THBS2):c.853G>A (p.Val285Ile)	not specified [RCV004668532]	uncertain significance	6	169241800	169241800	Human		name
597762696	CV3616405	single nucleotide variant	NM_003247.5(THBS2):c.887G>A (p.Arg296Lys)	not specified [RCV004869688]	likely benign	6	169241766	169241766	Human		name
597762701	CV3616406	single nucleotide variant	NM_003247.5(THBS2):c.671A>G (p.Lys224Arg)	not specified [RCV004869689]	uncertain significance	6	169246220	169246220	Human		name
597762724	CV3616411	single nucleotide variant	NM_003247.5(THBS2):c.803G>A (p.Arg268His)	not specified [RCV004869694]	likely benign	6	169241850	169241850	Human		name
597762764	CV3616420	single nucleotide variant	NM_003247.5(THBS2):c.655G>A (p.Asp219Asn)	not specified [RCV004869703]	uncertain significance	6	169246236	169246236	Human		name
597762772	CV3616422	single nucleotide variant	NM_003247.5(THBS2):c.982G>T (p.Ala328Ser)	not specified [RCV004869705]	uncertain significance	6	169240502	169240502	Human		name
598184793	CV3913504	single nucleotide variant	NM_003247.5(THBS2):c.440C>T (p.Ser147Leu)	not specified [RCV005287330]	uncertain significance	6	169248586	169248586	Human		name
598184824	CV3913509	single nucleotide variant	NM_003247.5(THBS2):c.362C>A (p.Ala121Glu)	not specified [RCV005287335]	uncertain significance	6	169248664	169248664	Human		name
15161802	CV710335	single nucleotide variant	NM_003247.5(THBS2):c.3441C>T (p.Gly1147=)	THBS2-related disorder [RCV003918430]\|not provided [RCV000970154]	benign	6	169220268	169220268	Human	1	name , trait , alternate_id
15158480	CV710340	single nucleotide variant	NM_003247.5(THBS2):c.361G>A (p.Ala121Thr)	not provided [RCV000969520]	benign	6	169248665	169248665	Human		name
15171646	CV721883	single nucleotide variant	NM_003247.5(THBS2):c.3354C>G (p.Pro1118=)	not provided [RCV000883691]	benign	6	169221447	169221447	Human		name
15171651	CV721884	single nucleotide variant	NM_003247.5(THBS2):c.3240C>T (p.Asn1080=)	not provided [RCV000883692]	benign	6	169222230	169222230	Human		name
15176658	CV721886	single nucleotide variant	NM_003247.5(THBS2):c.398C>G (p.Thr133Ser)	not provided [RCV000884632]	benign	6	169248628	169248628	Human		name
15153280	CV749976	single nucleotide variant	NM_003247.5(THBS2):c.3216G>A (p.Thr1072=)	not provided [RCV000924031]	benign	6	169222254	169222254	Human		name
15150433	CV749977	single nucleotide variant	NM_003247.5(THBS2):c.475G>A (p.Glu159Lys)	not provided [RCV000923475]	likely benign	6	169248551	169248551	Human		name
155924236	CV2211501	single nucleotide variant	NM_003247.5(THBS2):c.2644G>A (p.Ala882Thr)	not specified [RCV004084411]	uncertain significance	6	169225274	169225274	Human		name
155949236	CV2242660	single nucleotide variant	NM_003247.5(THBS2):c.1228G>C (p.Val410Leu)	not specified [RCV004113713]	uncertain significance	6	169237697	169237697	Human		name
156282169	CV2252385	single nucleotide variant	NM_003247.5(THBS2):c.1505C>T (p.Pro502Leu)	not specified [RCV004116229]	uncertain significance	6	169234880	169234880	Human		name
156202120	CV2256214	single nucleotide variant	NM_003247.5(THBS2):c.1705G>T (p.Asp569Tyr)	not specified [RCV004116474]	uncertain significance	6	169232964	169232964	Human		name
155946586	CV2266220	single nucleotide variant	NM_003247.5(THBS2):c.2545G>A (p.Val849Met)	not specified [RCV004128789]	likely benign	6	169225373	169225373	Human		name
156278748	CV2284982	single nucleotide variant	NM_003247.5(THBS2):c.1883G>T (p.Gly628Val)	not specified [RCV004143417]	uncertain significance	6	169232713	169232713	Human		name
156007526	CV2299732	single nucleotide variant	NM_003247.5(THBS2):c.2129A>G (p.Asn710Ser)	not specified [RCV004148895]	uncertain significance	6	169232002	169232002	Human		name
156300232	CV2306935	single nucleotide variant	NM_003247.5(THBS2):c.2053G>A (p.Ala685Thr)	not specified [RCV004157454]	uncertain significance	6	169232078	169232078	Human		name
156045817	CV2340208	single nucleotide variant	NM_003247.5(THBS2):c.1019C>T (p.Thr340Met)	not specified [RCV004192441]	uncertain significance	6	169240465	169240465	Human		name
156233004	CV2346162	single nucleotide variant	NM_003247.5(THBS2):c.2591T>C (p.Ile864Thr)	not specified [RCV004201622]	uncertain significance	6	169225327	169225327	Human		name
155961411	CV2388030	single nucleotide variant	NM_003247.5(THBS2):c.2680G>A (p.Asp894Asn)	not specified [RCV004241161]	uncertain significance	6	169225238	169225238	Human		name
329369710	CV2424888	single nucleotide variant	NM_003247.5(THBS2):c.2584G>A (p.Glu862Lys)	not specified [RCV004248772]	uncertain significance	6	169225334	169225334	Human		name
329397495	CV2456232	single nucleotide variant	NM_003247.5(THBS2):c.2035G>A (p.Glu679Lys)	not specified [RCV004273414]	uncertain significance	6	169232096	169232096	Human		name
329397177	CV2459988	single nucleotide variant	NM_003247.5(THBS2):c.1411A>G (p.Met471Val)	not specified [RCV004279463]	uncertain significance	6	169237236	169237236	Human		name
329398515	CV2471135	single nucleotide variant	NM_003247.5(THBS2):c.2324G>A (p.Arg775His)	not specified [RCV004278387]	uncertain significance	6	169228217	169228217	Human		name
401751893	CV2672612	single nucleotide variant	NM_003247.5(THBS2):c.1600G>A (p.Val534Met)	not specified [RCV004287641]	uncertain significance	6	169234785	169234785	Human		name
401768728	CV2686352	single nucleotide variant	NM_003247.5(THBS2):c.2116G>T (p.Val706Phe)	not specified [RCV004297427]	uncertain significance	6	169232015	169232015	Human		name
401763780	CV2689595	single nucleotide variant	NM_003247.5(THBS2):c.2978A>G (p.Asn993Ser)	not specified [RCV004309017]	uncertain significance	6	169223271	169223271	Human		name
401770202	CV2719087	single nucleotide variant	NM_003247.5(THBS2):c.1679C>T (p.Pro560Leu)	not specified [RCV004322660]	uncertain significance	6	169232990	169232990	Human		name
401753015	CV2724971	single nucleotide variant	NM_003247.5(THBS2):c.1544G>A (p.Arg515Gln)	not specified [RCV004319734]	uncertain significance	6	169234841	169234841	Human		name
405276946	CV3192314	single nucleotide variant	NM_003247.5(THBS2):c.2203G>A (p.Gly735Arg)	THBS2-related disorder [RCV003917280]	likely benign	6	169229628	169229628	Human		name , trait , alternate_id
405274623	CV3209023	single nucleotide variant	NM_003247.5(THBS2):c.2488G>A (p.Gly830Ser)	THBS2-related disorder [RCV003951785]	benign	6	169226230	169226230	Human		name , trait , alternate_id
405291380	CV3222252	single nucleotide variant	NM_003247.5(THBS2):c.2686T>C (p.Cys896Arg)	Ehlers-Danlos syndrome [RCV003985134]\|Ehlers-Danlos syndrome, classic-like, 3 [RCV004577965]	pathogenic	6	169225232	169225232	Human	2	name
405793185	CV3339213	single nucleotide variant	NM_003247.5(THBS2):c.1102G>A (p.Gly368Ser)	not specified [RCV004474815]	uncertain significance	6	169239626	169239626	Human		name
405793190	CV3339214	single nucleotide variant	NM_003247.5(THBS2):c.1105G>A (p.Glu369Lys)	not specified [RCV004474816]	uncertain significance	6	169239623	169239623	Human		name
405793193	CV3339215	single nucleotide variant	NM_003247.5(THBS2):c.1184T>C (p.Val395Ala)	not specified [RCV004474817]	uncertain significance	6	169237741	169237741	Human		name
405793196	CV3339216	single nucleotide variant	NM_003247.5(THBS2):c.1267C>T (p.Arg423Trp)	not specified [RCV004474818]	uncertain significance	6	169237658	169237658	Human		name
405793199	CV3339217	single nucleotide variant	NM_003247.5(THBS2):c.1369A>G (p.Asn457Asp)	not specified [RCV004474819]	uncertain significance	6	169237278	169237278	Human		name
405793202	CV3339218	single nucleotide variant	NM_003247.5(THBS2):c.1441C>T (p.Arg481Trp)	not specified [RCV004474820]	uncertain significance	6	169237206	169237206	Human		name
405793205	CV3339219	single nucleotide variant	NM_003247.5(THBS2):c.1466C>A (p.Ala489Asp)	not specified [RCV004474821]	uncertain significance	6	169237181	169237181	Human		name
405793211	CV3339221	single nucleotide variant	NM_003247.5(THBS2):c.1897G>A (p.Gly633Arg)	not specified [RCV004474823]	uncertain significance	6	169232699	169232699	Human		name
405793214	CV3339222	single nucleotide variant	NM_003247.5(THBS2):c.2029A>G (p.Lys677Glu)	not specified [RCV004474824]	uncertain significance	6	169232102	169232102	Human		name
405793220	CV3339224	single nucleotide variant	NM_003247.5(THBS2):c.2635A>C (p.Ile879Leu)	not specified [RCV004474826]	uncertain significance	6	169225283	169225283	Human		name
405793223	CV3339225	single nucleotide variant	NM_003247.5(THBS2):c.2713G>A (p.Val905Ile)	not specified [RCV004474827]	likely benign	6	169225205	169225205	Human		name
407497933	CV3478882	single nucleotide variant	NM_003247.5(THBS2):c.2406C>G (p.Asp802Glu)	not specified [RCV004668528]	uncertain significance	6	169228135	169228135	Human		name
407497937	CV3478884	single nucleotide variant	NM_003247.5(THBS2):c.1146G>T (p.Glu382Asp)	not specified [RCV004668530]	uncertain significance	6	169237779	169237779	Human		name
407497959	CV3478890	single nucleotide variant	NM_003247.5(THBS2):c.2473G>A (p.Asp825Asn)	not specified [RCV004668535]	uncertain significance	6	169226245	169226245	Human		name
407520087	CV3478891	single nucleotide variant	NM_003247.5(THBS2):c.1330T>G (p.Ser444Ala)	not specified [RCV004676835]	uncertain significance	6	169237317	169237317	Human		name
597762691	CV3616404	single nucleotide variant	NM_003247.5(THBS2):c.2848G>A (p.Glu950Lys)	not specified [RCV004869687]	uncertain significance	6	169223401	169223401	Human		name
597762711	CV3616408	single nucleotide variant	NM_003247.5(THBS2):c.2344G>A (p.Val782Met)	not specified [RCV004869691]	uncertain significance	6	169228197	169228197	Human		name
597762715	CV3616409	single nucleotide variant	NM_003247.5(THBS2):c.1157C>T (p.Pro386Leu)	not specified [RCV004869692]	uncertain significance	6	169237768	169237768	Human		name
597762719	CV3616410	single nucleotide variant	NM_003247.5(THBS2):c.1746G>C (p.Leu582Phe)	not specified [RCV004869693]	uncertain significance	6	169232923	169232923	Human		name
597762728	CV3616412	single nucleotide variant	NM_003247.5(THBS2):c.1450A>G (p.Lys484Glu)	not specified [RCV004869695]	uncertain significance	6	169237197	169237197	Human		name
597762733	CV3616413	single nucleotide variant	NM_003247.5(THBS2):c.2611A>C (p.Asn871His)	not specified [RCV004869696]	uncertain significance	6	169225307	169225307	Human		name
597762737	CV3616414	single nucleotide variant	NM_003247.5(THBS2):c.1874G>T (p.Arg625Leu)	not specified [RCV004869697]	uncertain significance	6	169232722	169232722	Human		name
597762741	CV3616415	single nucleotide variant	NM_003247.5(THBS2):c.2665A>G (p.Arg889Gly)	not specified [RCV004869698]	likely benign	6	169225253	169225253	Human		name
597762751	CV3616417	single nucleotide variant	NM_003247.5(THBS2):c.1559T>C (p.Val520Ala)	not specified [RCV004869700]	uncertain significance	6	169234826	169234826	Human		name
597762760	CV3616419	single nucleotide variant	NM_003247.5(THBS2):c.1780T>C (p.Cys594Arg)	not specified [RCV004869702]	uncertain significance	6	169232816	169232816	Human		name
597762767	CV3616421	single nucleotide variant	NM_003247.5(THBS2):c.1237A>C (p.Asn413His)	not specified [RCV004869704]	uncertain significance	6	169237688	169237688	Human		name
597762777	CV3616423	single nucleotide variant	NM_003247.5(THBS2):c.1933G>A (p.Val645Met)	not specified [RCV004869706]	uncertain significance	6	169232198	169232198	Human		name
597762782	CV3616424	single nucleotide variant	NM_003247.5(THBS2):c.1759C>T (p.His587Tyr)	not specified [RCV004869707]	uncertain significance	6	169232910	169232910	Human		name
597762786	CV3616425	single nucleotide variant	NM_003247.5(THBS2):c.2423T>A (p.Val808Asp)	not specified [RCV004869708]	uncertain significance	6	169226295	169226295	Human		name
597762791	CV3616426	single nucleotide variant	NM_003247.5(THBS2):c.2539A>G (p.Thr847Ala)	not specified [RCV004869709]	uncertain significance	6	169225379	169225379	Human		name
598124164	CV3881319	single nucleotide variant	NM_003247.5(THBS2):c.2783G>A (p.Arg928Gln)	not specified [RCV005231743]	uncertain significance	6	169223466	169223466	Human		name
598122763	CV3889915	single nucleotide variant	NM_003247.5(THBS2):c.1273T>G (p.Cys425Gly)	Ehlers-Danlos syndrome [RCV005250432]	uncertain significance	6	169237652	169237652	Human	1	name
598184799	CV3913505	single nucleotide variant	NM_003247.5(THBS2):c.2602G>A (p.Gly868Ser)	not specified [RCV005287331]	uncertain significance	6	169225316	169225316	Human		name
598184803	CV3913506	single nucleotide variant	NM_003247.5(THBS2):c.1303C>T (p.Arg435Trp)	not specified [RCV005287332]	uncertain significance	6	169237344	169237344	Human		name
598184810	CV3913507	single nucleotide variant	NM_003247.5(THBS2):c.1861C>T (p.Pro621Ser)	not specified [RCV005287333]	uncertain significance	6	169232735	169232735	Human		name
598184816	CV3913508	single nucleotide variant	NM_003247.5(THBS2):c.1363G>A (p.Val455Ile)	not specified [RCV005287334]	uncertain significance	6	169237284	169237284	Human		name
598175957	CV3913510	single nucleotide variant	NM_003247.5(THBS2):c.1543C>T (p.Arg515Trp)	not specified [RCV005285562]	uncertain significance	6	169234842	169234842	Human		name
598184830	CV3913511	single nucleotide variant	NM_003247.5(THBS2):c.2813A>G (p.Asn938Ser)	not specified [RCV005287336]	uncertain significance	6	169223436	169223436	Human		name
598184839	CV3913512	single nucleotide variant	NM_003247.5(THBS2):c.2769G>C (p.Leu923Phe)	not specified [RCV005287337]	uncertain significance	6	169225149	169225149	Human		name
598184845	CV3913513	single nucleotide variant	NM_003247.5(THBS2):c.2393C>A (p.Ala798Asp)	not specified [RCV005287338]	uncertain significance	6	169228148	169228148	Human		name
598184851	CV3913514	single nucleotide variant	NM_003247.5(THBS2):c.2483G>A (p.Gly828Asp)	not specified [RCV005287339]	uncertain significance	6	169226235	169226235	Human		name
15133875	CV710337	single nucleotide variant	NM_003247.5(THBS2):c.2009A>T (p.His670Leu)	not provided [RCV000965028]	benign	6	169232122	169232122	Human		name
15155684	CV721885	single nucleotide variant	NM_003247.5(THBS2):c.1297C>T (p.Arg433Cys)	not provided [RCV000880468]	likely benign	6	169237628	169237628	Human		name
15105908	CV782494	single nucleotide variant	NM_003247.5(THBS2):c.2683G>A (p.Ala895Thr)	not provided [RCV000976531]	likely benign	6	169225235	169225235	Human		name
155951493	CV2264112	single nucleotide variant	NM_003247.5(THBS2):c.3166C>T (p.Arg1056Trp)	not specified [RCV004136272]	uncertain significance	6	169222304	169222304	Human		name
155905382	CV2385783	single nucleotide variant	NM_003247.5(THBS2):c.3514A>G (p.Ile1172Val)	not specified [RCV004226530]	likely benign	6	169217827	169217827	Human		name
156149259	CV2394561	single nucleotide variant	NM_003247.5(THBS2):c.3082G>A (p.Val1028Ile)	not specified [RCV004240914]	uncertain significance	6	169222388	169222388	Human		name
401723968	CV2684929	single nucleotide variant	NM_003247.5(THBS2):c.3010G>A (p.Glu1004Lys)	not specified [RCV004296432]	uncertain significance	6	169222460	169222460	Human		name
401885797	CV2783390	single nucleotide variant	NM_003247.5(THBS2):c.3286T>G (p.Trp1096Gly)	not specified [RCV004365743]	uncertain significance	6	169221515	169221515	Human		name
405276990	CV3198685	single nucleotide variant	NM_003247.5(THBS2):c.3266C>T (p.Pro1089Leu)	THBS2-related disorder [RCV003904011]	benign	6	169222204	169222204	Human		name , trait , alternate_id
405258503	CV3203873	single nucleotide variant	NM_003247.5(THBS2):c.3074C>T (p.Ala1025Val)	THBS2-related disorder [RCV003942037]	benign	6	169222396	169222396	Human		name , trait , alternate_id
405793226	CV3339226	single nucleotide variant	NM_003247.5(THBS2):c.3164C>T (p.Thr1055Met)	not specified [RCV004474828]	uncertain significance	6	169222306	169222306	Human		name
407497941	CV3478886	single nucleotide variant	NM_003247.5(THBS2):c.3046G>A (p.Val1016Ile)	not specified [RCV004668531]	uncertain significance	6	169222424	169222424	Human		name
407497955	CV3478889	single nucleotide variant	NM_003247.5(THBS2):c.3187G>A (p.Val1063Met)	not specified [RCV004668534]	uncertain significance	6	169222283	169222283	Human		name
15177637	CV699454	single nucleotide variant	NM_003247.5(THBS2):c.3296C>T (p.Pro1099Leu)	not provided [RCV000951089]	benign	6	169221505	169221505	Human	1	name
15177637	CV699454	single nucleotide variant	NM_003247.5(THBS2):c.3296C>T (p.Pro1099Leu)	not provided [RCV000951089]	benign	6	169221505	169221506	Human	1	name

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